KEGG   DISEASE: EVEN-plus syndrome
Entry
H02343                      Disease                                
Name
EVEN-plus syndrome
Description
EVEN-plus (epiphyseal, vertebral, ear, nose, plus associated findings) syndrome is a rare multiple congenital anomalies syndrome. Mutations in the HSPA9 gene, coding for the mitochondrial chaperone mortalin, cause EVEN-plus syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02343  EVEN-plus syndrome
Pathway
hsa03018  RNA degradation
Gene
HSPA9 [HSA:3313] [KO:K04043]
Other DBs
ICD-11: LD2F.Y
ICD-10: Q87.8
OMIM: 616854
Reference
PMID:10424819
  Authors
Amiel J, Cormier-Daire V, Journeau P, Mussat P, Munnich A, Lyonnet S
  Title
Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
  Journal
J Med Genet 36:561-4 (1999)
DOI:10.1136/jmg.36.7.561
Reference
PMID:26598328
  Authors
Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafe L, Rivolta C, Unger S, Superti-Furga A
  Title
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
  Journal
Sci Rep 5:17154 (2015)
DOI:10.1038/srep17154
Reference
PMID:30933555
  Authors
Moseng MA, Nix JC, Page RC
  Title
Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.
  Journal
J Phys Chem B 123:3383-3396 (2019)
DOI:10.1021/acs.jpcb.9b00071

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

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